Y49I (p.Tyr49Ile) variant of DBH (Dopamine beta-hydroxylase)
Y49I (p.Tyr49Ile) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Y49I (p.Tyr49Ile) variant details
- p.Tyr49Ile
- gnomAD 9-133636515-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 24.90
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available